P. J. Orchard

A Systematic Review of Metachromatic Leukodystrophy Newborn Screening: Transitioning from Pilot Studies to the Real World

Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder causing progressive neurodegeneration through central and peripheral demyelination, leading to premature death. Recent advances in ex vivo lentiviral gene therapy have developed a potentially curative treatment approach for pre-symptomatic infants...